Gail Jarvik
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Genetics researcher
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Gail Jarvikbiology Degrees
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Biology
Gail Jarvik's Degrees
- Doctorate Medicine University of California, San Francisco
- PhD Genetics University of Washington
Why Is Gail Jarvik Influential?
(Suggest an Edit or Addition)According to Wikipedia, Gail Jarvik is an American geneticist who is currently the Arno G. Motulsky Endowed Chair at University of Washington and an Elected Fellow of the American Association for the Advancement of Science.
Gail Jarvik's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (2014) (799)
- Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data (2013) (763)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies (2011) (665)
- The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future (2013) (596)
- Presence of Intraplaque Hemorrhage Stimulates Progression of Carotid Atherosclerotic Plaques: A High-Resolution Magnetic Resonance Imaging Study (2005) (548)
- Detectable clonal mosaicism from birth to old age and its relationship to cancer (2012) (514)
- Rare and low-frequency coding variants alter human adult height (2016) (511)
- Interactions of apolipoprotein E genotype, total cholesterol level, age, and sex in prediction of Alzheimer's disease (1995) (392)
- Effects of 5' regulatory-region polymorphisms on paraoxonase-gene (PON1) expression. (2001) (363)
- Actionable, pathogenic incidental findings in 1,000 participants' exomes. (2013) (359)
- Return of genomic results to research participants: the floor, the ceiling, and the choices in between. (2014) (336)
- Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. (1999) (336)
- Quality Control Procedures for Genome‐Wide Association Studies (2011) (330)
- Paraoxonase (PON1) Phenotype Is a Better Predictor of Vascular Disease Than Is PON1192 or PON155 Genotype (2000) (326)
- Periventricular leukomalacia is common after neonatal cardiac surgery. (2004) (325)
- Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines from a National Heart, Lung, and Blood Institute Working Group (2010) (324)
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification (2015) (308)
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. (2016) (283)
- Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. (2012) (282)
- Recommendations for returning genomic incidental findings? We need to talk! (2013) (275)
- Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease (2011) (274)
- Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study (2012) (259)
- Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. (2008) (258)
- Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. (2011) (248)
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. (2016) (244)
- Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. (2012) (238)
- The phenotypic legacy of admixture between modern humans and Neandertals (2016) (235)
- Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. (2007) (230)
- Functional genomic of the paraoxonase (PON1) polymorphisms: effects on pesticide sensitivity, cardiovascular disease, and drug metabolism. (2003) (216)
- Vitamin C and E Intake Is Associated With Increased Paraoxonase Activity (2002) (211)
- Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group (2006) (203)
- ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. (2012) (201)
- Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. (2003) (199)
- Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
- Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems (2014) (196)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
- Polymorphisms in the human paraoxonase (PON1) promoter. (2001) (180)
- WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. (2013) (179)
- National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. (2009) (175)
- Genomic research and wide data sharing: Views of prospective participants (2010) (173)
- Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants. (2016) (172)
- Neurodevelopmental Outcomes After Staged Palliation for Hypoplastic Left Heart Syndrome (2008) (167)
- Parallel reaction monitoring (PRM) and selected reaction monitoring (SRM) exhibit comparable linearity, dynamic range and precision for targeted quantitative HDL proteomics. (2015) (164)
- Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk (2013) (163)
- A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. (2005) (161)
- Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. (2016) (155)
- Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. (2017) (152)
- Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. (2014) (150)
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. (2013) (145)
- Lower Cognitive Performance in Normal Older Adult Male Twins Carrying the Apolipoprotein E ε4 Allele (1994) (145)
- Midlife cardiovascular risk factors, ApoE, and cognitive decline in elderly male twins (1998) (145)
- Paraoxonase Activity, But Not Haplotype Utilizing the Linkage Disequilibrium Structure, Predicts Vascular Disease (2003) (144)
- Paraoxonases-1, -2 and -3: What are their functions? (2016) (143)
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. (2016) (143)
- Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
- Anticipation in familial leukemia. (1996) (138)
- Increasing duration of deep hypothermic circulatory arrest is associated with an increased incidence of postoperative electroencephalographic seizures. (2005) (136)
- Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. (2011) (133)
- A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects (2013) (130)
- Imputation and quality control steps for combining multiple genome-wide datasets (2014) (130)
- The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
- Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions (2011) (127)
- Predictors of carotid atherosclerotic plaque progression as measured by noninvasive magnetic resonance imaging. (2007) (123)
- Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network (2012) (123)
- Linkage analysis of 49 high-risk families does not support a common familial prostate cancer-susceptibility gene at 1q24-25. (1997) (122)
- Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. (2009) (122)
- Glad You Asked: Participants' Opinions of Re-Consent for DbGap Data Submission (2010) (118)
- Paraoxonase 1 (PON1) status and substrate hydrolysis. (2009) (117)
- Technical desiderata for the integration of genomic data into Electronic Health Records (2012) (115)
- Recommendations for the integration of genomics into clinical practice (2016) (115)
- Determination of Paraoxonase 1 Status Without the Use of Toxic Organophosphate Substrates (2008) (112)
- Desiderata for computable representations of electronic health records-driven phenotype algorithms (2015) (111)
- Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis. (2015) (110)
- Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network (2012) (107)
- Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2018) (107)
- The cost-effectiveness of returning incidental findings from next-generation genomic sequencing (2014) (99)
- Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium (2013) (99)
- A genomic scan of families with prostate cancer identifies multiple regions of interest. (2000) (99)
- Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype. (1994) (97)
- Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain (2018) (95)
- Apolipoprotein E Genotype Modifies the Risk of Behavior Problems After Infant Cardiac Surgery (2009) (93)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
- The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. (2018) (91)
- The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. (2006) (91)
- Perioperative stroke in infants undergoing open heart operations for congenital heart disease. (2009) (90)
- GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network (2019) (89)
- Return of results: Ethical and legal distinctions between research and clinical care (2014) (88)
- Research Practice and Participant Preferences: The Growing Gulf (2011) (85)
- The FDA and genomic tests--getting regulation right. (2015) (84)
- Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? (2010) (83)
- Heritability of Longitudinal Measures of Body Mass Index and Lipid and Lipoprotein Levels in Aging Twins (2007) (83)
- Influence of apolipoprotein E genotype on the transmission of Alzheimer disease in a community-based sample. (1996) (83)
- Complex segregation analyses: uses and limitations. (1998) (82)
- Identifying patients at high risk of a cardiovascular event in the near future: current status and future directions: report of a national heart, lung, and blood institute working group. (2010) (80)
- Role of paraoxonase (PON1) status in pesticide sensitivity: genetic and temporal determinants. (2005) (80)
- Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status. (2003) (78)
- Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment (2015) (78)
- Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024)) (2016) (77)
- Return of incidental findings in genomic medicine: measuring what patients value—development of an instrument to measure preferences for information from next-generation testing (IMPRINT) (2013) (77)
- Polymorphisms of the IL1-Receptor Antagonist Gene (IL1RN) Are Associated With Multiple Markers of Systemic Inflammation (2008) (76)
- CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record (2015) (74)
- Quantification of HDL particle concentration by calibrated ion mobility analysis. (2014) (74)
- Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. (2020) (74)
- A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record (2013) (72)
- Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality (2011) (71)
- eMERGEing progress in genomics—the first seven years (2014) (71)
- Analysis of chromosome 1q42.2-43 in 152 families with high risk of prostate cancer. (1999) (70)
- ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants (2017) (70)
- The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. (2019) (70)
- Arterial remodeling in [corrected] subclinical carotid artery disease. (2009) (70)
- Identification of Four Novel Loci in Asthma in European American and African American Populations (2017) (69)
- PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
- Paraoxonase 1 status as a risk factor for disease or exposure. (2010) (67)
- Genomic scan of 254 hereditary prostate cancer families (2003) (65)
- Evidence that the apolipoprotein E-genotype effects on lipid levels can change with age in males: a longitudinal analysis. (1997) (65)
- Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. (2020) (62)
- Analysis of paraoxonase (PON1) L55M status requires both genotype and phenotype. (2000) (61)
- A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories (2016) (61)
- Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (2011) (61)
- Paraoxonase ( PON 1 ) Phenotype Is a Better Predictor of Vascular Disease Than Is PON 1 192 or PON 1 55 Genotype (2000) (60)
- Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index (2014) (60)
- Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. (2008) (60)
- The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status Published, JLR Papers in Press, July 1, 2005. DOI 10.1194/jlr.M400489-JLR200 (2005) (59)
- Genetic variation associated with circulating monocyte count in the eMERGE Network. (2013) (59)
- LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins (2018) (58)
- Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
- Genetic association studies (2001) (57)
- Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. (1998) (56)
- Evidence for genetic influences on smoking in adult women twins (1995) (54)
- Genetic influences on age‐related change in total cholesterol, low density lipoprotein‐cholesterol and triglyceride levels: Longitudinal apolipoprotein E genotype effects (1994) (52)
- Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants. (2014) (51)
- Pharmacogenomic considerations of the paraoxonase polymorphisms. (2002) (51)
- Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families (2013) (51)
- The PON1 gene and detoxication. (2000) (50)
- Multiple genome-wide analyses of smoking behavior in the Framingham Heart Study (2003) (50)
- Informed Consent in Genome-Scale Research: What Do Prospective Participants Think? (2012) (50)
- Leveraging the electronic health record to implement genomic medicine (2012) (50)
- Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10 (2000) (49)
- Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. (2016) (49)
- Linkage analysis of 150 high‐risk prostate cancer families at 1q24‐25 (2000) (49)
- Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. (2015) (48)
- The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype (2018) (48)
- Characterizing genetic variants for clinical action (2014) (48)
- Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. (2012) (46)
- High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOE (2012) (46)
- Return of results in the genomic medicine projects of the eMERGE network (2014) (45)
- Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency. (1999) (45)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
- Modifiable risk factors for chronic back pain: insights using the co-twin control design. (2016) (45)
- Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
- Genetic Linkage Analysis of Prostate Cancer Families to Xq27–28 (2000) (43)
- Risk of Alzheimer Disease with the ±4 Allele for Apolipoprotein E in a Population‐Based Study of Men Aged 62–73 Years (1998) (43)
- Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience (2018) (43)
- Genetic Variation in LPAL2, LPA, and PLG Predicts Plasma Lipoprotein(a) Level and Carotid Artery Disease Risk (2011) (42)
- Dietary cholesterol increases paraoxonase 1 enzyme activity (2012) (42)
- Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network (2015) (42)
- Interaction between Fibrinogen and IL‐6 Genetic Variants and Associations with Cardiovascular Disease Risk in the Cardiovascular Health Study (2010) (41)
- Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program (2020) (41)
- Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. (2013) (40)
- Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy. (2013) (40)
- Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease (2009) (40)
- HDL‐3 is a Superior Predictor of Carotid Artery Disease in a Case‐Control Cohort of 1725 Participants (2014) (40)
- Determination of Paraoxonase 1 Status and Genotypes at Specific Polymorphic Sites (2004) (40)
- Prediction of periventricular leukomalacia. Part I: Selection of hemodynamic features using logistic regression and decision tree algorithms (2009) (40)
- Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
- Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology. (2019) (39)
- An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. (2018) (39)
- Low-Density Lipoprotein Particle Size Loci in Familial Combined Hyperlipidemia: Evidence for Multiple Loci From a Genome Scan (2004) (39)
- Refining the structure and content of clinical genomic reports (2014) (39)
- Clinical characteristics of prostate cancer in an analysis of linkage to four putative susceptibility loci. (2001) (38)
- A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network (2015) (38)
- Pharmacogenetics of paraoxonase activity: elucidating the role of high-density lipoprotein in disease. (2013) (38)
- Illustrative case studies in the return of exome and genome sequencing results (2015) (37)
- Oligogenic segregation analysis of hereditary prostate cancer pedigrees: Evidence for multiple loci affecting age at onset (2003) (37)
- Additional Common Polymorphisms in the PON Gene Cluster Predict PON1 Activity but Not Vascular Disease (2012) (37)
- Large-scale genome-wide association study of coronary artery disease in genetically diverse populations (2022) (36)
- TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease Published, JLR Papers in Press, February 11, 2006. (2006) (36)
- Inflammatory Response After Influenza Vaccination in Men With and Without Carotid Artery Disease (2006) (36)
- Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management. (1993) (35)
- Genetic predictors of common disease: apolipoprotein E genotype as a paradigm. (1997) (35)
- Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network (2014) (35)
- Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci (2014) (34)
- Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study (2017) (34)
- Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol[S] (2013) (34)
- Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction. (2006) (32)
- J. Maxwell Chamberlain Memorial Paper for congenital heart surgery. Deep hypothermic circulatory arrest does not impair neurodevelopmental outcome in school-age children after infant cardiac surgery. (2010) (32)
- Genomics of the NF-κB signaling pathway: hypothesized role in ovarian cancer (2011) (32)
- Is Incidental Finding the Best Term? A Study of Patients’ Preferences (2016) (32)
- Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. (2018) (31)
- Sequencing of sporadic Attention‐Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder (2017) (31)
- Genetic and nongenetic sources of variation in phospholipid transfer protein activity[S] (2010) (31)
- Lower cognitive performance in normal older adult male twins carrying the apolipoprotein E epsilon 4 allele. (1994) (31)
- Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study. (2009) (31)
- TCIRG1‐Associated Congenital Neutropenia (2014) (31)
- Navigating the research–clinical interface in genomic medicine: analysis from the CSER Consortium (2017) (30)
- Concentration of Smaller High‐Density Lipoprotein Particle (HDL‐P) Is Inversely Correlated With Carotid Intima Media Thickening After Confounder Adjustment: The Multi Ethnic Study of Atherosclerosis (MESA) (2016) (30)
- Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network (2019) (30)
- Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network (2020) (29)
- Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment (2003) (29)
- Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision (2021) (29)
- Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing (2016) (28)
- Probing the Virtual Proteome to Identify Novel Disease Biomarkers (2018) (28)
- Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia (1993) (28)
- Germline mutations in the p73 gene do not predispose to familial prostate‐brain cancer (2001) (28)
- Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. (2000) (28)
- Genome-wide study of resistant hypertension identified from electronic health records (2017) (28)
- Regulatory changes raise troubling questions for genomic testing (2014) (27)
- Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer (2013) (27)
- Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. (2020) (27)
- Generating a taxonomy for genetic conditions relevant to reproductive planning (2016) (27)
- Patient genotypes impact survival after surgery for isolated congenital heart disease. (2014) (26)
- Non-Mendelian transmission in a human developmental disorder: split hand/split foot. (1994) (26)
- Variant Interpretation for Dilated Cardiomyopathy (2020) (26)
- The Functional Consequences of Polymorphisms in the Human PON1 Gene (2008) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- Paraoxonase 1 promoter and coding region polymorphisms in Parkinson’s disease (2003) (26)
- Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies (2021) (25)
- The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. (2019) (25)
- Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice (2016) (25)
- Frequency of genomic incidental findings among 21,915 eMERGE network participants (2020) (25)
- Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis (2019) (25)
- Functional genomics of the paraoxonase polymorphisms (2003) (24)
- Identification of a prostate cancer susceptibility locus on chromosome 7q11–21 in Jewish families (2004) (24)
- Diabetes Impairs Cellular Cholesterol Efflux From ABCA1 to Small HDL Particles (2020) (24)
- Prediction of periventricular leukomalacia. Part II: Selection of hemodynamic features using computational intelligence (2009) (24)
- CLIA-tested genetic variants on commercial SNP arrays: Potential for incidental findings in genome-wide association studies (2010) (24)
- A genome-wide association study of polycystic ovary syndrome identified from electronic health records. (2020) (23)
- Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing (2015) (23)
- Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG) (2019) (23)
- Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes (2013) (23)
- A GWAS Study on Liver Function Test Using eMERGE Network Participants (2015) (23)
- Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing (2016) (22)
- Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing (2017) (22)
- Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. (1996) (22)
- The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation (2018) (22)
- Arterial Remodeling in the Subclinical Carotid Artery Disease (2010) (22)
- Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia (2005) (21)
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population (2017) (20)
- Mastering Genomic Terminology (2016) (20)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
- Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. (2014) (20)
- Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL[S] (2013) (20)
- Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S] (2014) (20)
- Genetic variation in the SIM1 locus is associated with erectile dysfunction (2018) (20)
- Apolipoprotein E genotype and the risk of gallbladder disease in pregnancy (2000) (20)
- National Institutes of Health State-of-the-Science Conference Statement (2005) (20)
- A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR (2019) (19)
- Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network (2015) (19)
- Enhancing the Power of Genetic Association Studies through the Use of Silver Standard Cases Derived from Electronic Medical Records (2013) (19)
- Mechanistic Phenotypes: An Aggregative Phenotyping Strategy to Identify Disease Mechanisms Using GWAS Data (2013) (19)
- Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment (2018) (18)
- Centers for Mendelian Genomics: A decade of facilitating gene discovery (2021) (18)
- Dietary fatty acid intake is associated with paraoxonase 1 activity in a cohort-based analysis of 1,548 subjects (2013) (18)
- Practical Barriers and Ethical Challenges in Genetic Data Sharing (2014) (18)
- Ex vivo measures of LDL oxidative susceptibility predict carotid artery disease. (2005) (18)
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel (2018) (18)
- TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects (2007) (18)
- An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020) (18)
- PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity1[S] (2015) (17)
- Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death (2015) (17)
- Parents’ attitudes toward consent and data sharing in biobanks: A multisite experimental survey (2018) (17)
- Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. (2012) (17)
- Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011)) (2016) (17)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies. (2020) (16)
- Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR) (2015) (16)
- Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network (2015) (15)
- Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry (2021) (15)
- Bias of allele-sharing linkage statistics in the presence of intermarker linkage disequilibrium (2005) (15)
- Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records (2014) (15)
- Affective disorders and Alzheimer disease: a missing-link hypothesis. (2001) (15)
- Genome-wide polygenic score to predict chronic kidney disease across ancestries (2022) (15)
- Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project (2016) (15)
- Effects of dietary components on high-density lipoprotein measures in a cohort of 1,566 participants (2014) (15)
- Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (15)
- "Getting off the Bus Closer to Your Destination": Patients' Views about Pharmacogenetic Testing. (2015) (15)
- Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs (2018) (14)
- Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow-Up following Cardiac Surgery in Infancy (2012) (14)
- Linkage and association of phospholipid transfer protein activity to LASS4[S] (2011) (14)
- A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project (2014) (13)
- Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience (2018) (13)
- Genetic Analysis Workshop 14: microsatellite and single-nucleotide polymorphism marker loci for genome-wide scans (2005) (13)
- Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: The ARIA model. (2020) (13)
- Impact of HIPAA’s Minimum Necessary Standard on Genomic Data Sharing (2017) (13)
- Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births. (2005) (13)
- A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes (2021) (13)
- National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009. (2009) (13)
- Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations. (2021) (12)
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts (2017) (12)
- Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network (2018) (12)
- The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation. (2019) (12)
- Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science (2020) (12)
- Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment (2018) (12)
- Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network (2020) (12)
- Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases (2021) (12)
- Assessment and implications of linkage disequilibrium in genome‐wide single‐nucleotide polymorphism and microsatellite panels (2005) (12)
- Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations (2021) (12)
- Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families (2010) (12)
- Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making. (2018) (11)
- Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. (2022) (11)
- Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings (2018) (11)
- Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia. (2008) (11)
- Confirmation of prostate cancer susceptibility genes using high-risk families. (1999) (11)
- Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts (2014) (11)
- A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers (2018) (11)
- Alzheimer's disease and the family effect (1994) (11)
- Comparison of tagging single-nucleotide polymorphism methods in association analyses (2007) (10)
- Effect of congenital heart disease on 4‐year neurodevelopment within multiple‐gestation births (2017) (10)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
- Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests (2019) (10)
- Autosomal dominant mannose‐binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants (2017) (10)
- Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants (2020) (10)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies (2019) (10)
- Development of FamilyTalk: an Intervention to Support Communication and Educate Families About Colorectal Cancer Risk (2019) (10)
- Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis. (2021) (10)
- Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management. (1994) (9)
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. (2020) (9)
- Conducting a large, multi-site survey about patients’ views on broad consent: challenges and solutions (2016) (9)
- Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes (2021) (9)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (9)
- Beneficence, Clinical Urgency, and the Return of Individual Research Results to Relatives (2012) (9)
- Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes (2017) (9)
- Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes (2020) (8)
- A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD (2017) (8)
- Projected Cost-Effectiveness for 2 Gene-Drug Pairs Using a Multigene Panel for Patients Undergoing Percutaneous Coronary Intervention. (2019) (8)
- An examination of the genotyping error detection function of SIMWALK2 (2003) (8)
- ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow (2015) (8)
- Genomic Considerations for FHIR; eMERGE Implementation Lessons (2021) (8)
- Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome‐Wide Association Study and Inverse Variance–Weighted Meta‐Analysis (2020) (8)
- A large-scale multi-ethnic genome-wide association study of coronary artery disease (2021) (7)
- “It would be so much easier”: health system-led genetic risk notification—feasibility and acceptability of cascade screening in an integrated system (2019) (7)
- The polygenic architecture of left ventricular mass mirrors the clinical epidemiology (2020) (7)
- Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. (2019) (7)
- Allocation of Resources to Communication of Research Result Summaries (2016) (7)
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. (2016) (7)
- Response—The Risks and Benefits of Re-Consent (2011) (7)
- Genomic Medicine Year in Review: 2019. (2019) (7)
- Impact of family structure on the power of linkage tests using sib‐pair methods (1999) (7)
- Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals (2017) (7)
- Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2020) (7)
- Discordance in selected designee for return of genomic findings in the event of participant death and estate executor (2017) (7)
- Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices (2021) (7)
- What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk? (2021) (7)
- Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study (2021) (7)
- A genome-wide association study of polycystic ovary syndrome identified from electronic health records (2019) (6)
- A genome-wide association study suggests correlations of common genetic variants with peritoneal solute transfer rates in patients with kidney failure receiving peritoneal dialysis. (2021) (6)
- Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425)) (2012) (6)
- Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data (2016) (6)
- Failure to validate association of mannose-binding lectin deficiency with adverse neurodevelopmental outcomes after cardiac surgery in infants. (2019) (6)
- Host and environmental effects on plasma apolipoprotein B (1993) (6)
- A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
- Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome (2016) (5)
- Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network (2020) (5)
- Summary report: Missing data and pedigree and genotyping errors (2003) (5)
- Segregation and linkage analysis of a quantitative versus a qualitative trait in large pedigrees (1997) (5)
- Post-Traumatic Stress Disorder Symptoms are Associated with Incident Chronic Back Pain: A Longitudinal Twin Study of Older Male Veterans. (2019) (5)
- CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. (2019) (5)
- Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (5)
- Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry (2021) (5)
- Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing. (2021) (5)
- Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study (2020) (5)
- Genome-and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk Running title : Ritchie et al . ; QRS GWAS and PheWAS in electronic records (2013) (5)
- The role of parametric linkage methods in complex trait analyses using microsatellites (2005) (5)
- STATISTICAL GENETICS ’98 Complex Segregation Analyses: Uses and Limitations (1998) (4)
- Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network (2021) (4)
- Differences in atheroma between Caucasian and Asian subjects with anterior stroke: A vessel wall MRI study (2020) (4)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
- ShareDNA: a smartphone app to facilitate family communication of genetic results (2021) (4)
- Multiancestral polygenic risk score for pediatric asthma. (2022) (4)
- Preferences of biobank participants for receiving actionable genomic test results: results of a re-contacting study (2021) (4)
- The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. (2022) (4)
- Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. (2019) (4)
- Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90 (2022) (4)
- Genomic Medicine Year in Review: 2020. (2020) (3)
- Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access. (2022) (3)
- Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. (2021) (3)
- Genome-Wide Association Study Of Acute Lung Injury Risk Loci In The Ispaar Consortium (2011) (3)
- Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2019) (3)
- Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling (2018) (3)
- Human genome meeting 2016 (2016) (3)
- Neptune: An environment for the delivery of genomic medicine (2021) (3)
- Next-generation gene discovery for variants of large impact on lipid traits (2015) (3)
- Building a family network from genetic testing (2016) (3)
- Enrichment sampling for a multi-site patient survey using electronic health records and census data (2019) (3)
- Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned from ClinGen and eMERGE (2019) (3)
- Community-Based Sample (2007) (2)
- Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network (2020) (2)
- Genomic medicine year in review: 2021. (2021) (2)
- ERRATUM: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium (2014) (2)
- Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (2)
- Response to Li and Hopper. (2021) (2)
- Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis (2020) (2)
- Results to a Participant ’ s Family , Including After the Participant ’ s Death ? (2015) (2)
- Genes in search of diseases (2001) (2)
- Replication of SCN5A Associations with Electrocardiographic Traits in African Americans from Clinical and Epidemiologic Studies (2014) (2)
- Arno G. Motulsky (1923–2018): A Founder of Medical Genetics, Creator of Pharmacogenetics, and Former ASHG President (2018) (2)
- Relationship between genetic knowledge and familial communication of CRC risk and intent to communicate CRCP genetic information: insights from FamilyTalk eMERGE III. (2020) (1)
- A RARE PROSTATE CANCER SUSCEPTIBILITY LOCUS MAPPED TO THE SHORT ARM OF CHROMOSOME 1 (1p36) (1999) (1)
- Barriers to family history knowledge and family communication among LGBTQ+ individuals in the context of hereditary cancer risk assessment (2021) (1)
- 2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler. (2017) (1)
- Comment on “Multidimensional Results Reporting to Participants in Genomic Studies: Getting It Right” (2011) (1)
- Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution (2019) (1)
- The annual ASHG dinner. (2022) (1)
- Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders (2022) (1)
- Arrhythmia Risk Genome-and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of (2013) (1)
- User-Centered Design of a Collaborative Genetic Variant Interpretation Tool (2017) (1)
- Genomics, past and future, with a preview of upcoming film Ken Burns presents The Gene: An Intimate History (2020) (1)
- Can Next Generation Sequencing Save Lives and Provide a Good Economic Value in Colon Cancer Prevention (2014) (1)
- Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (1)
- Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2021) (1)
- Abstract 15433: Lpa Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins Abstract (2017) (1)
- TCIRG1 Associated Congenital Neutropenia (2013) (1)
- Abstract 1806: Notifiable Genetic Variants on Commercially Available SNP Arrays: Implications for Research Participants in Genome-wide Association Studies for Cardiovascular Disease (2009) (1)
- Erratum: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height ((The American Journal of Human Genetics (2010) 88 (6-18)) (2012) (1)
- Genome-wide association study of susceptibility to hospitalised respiratory infections (2021) (1)
- Returning integrated genomic risk and clinical recommendations: the eMERGE study. (2023) (1)
- Loci influencing blood pressure identified using a cardiovascular gene-centric array (Correction to Ganesh et al. 22 (8): 1663) (2013) (1)
- The genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene (2021) (1)
- Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience (2022) (1)
- Paraoxonase 1 (PONl) status in risk assessment for organophosphate exposure and pharmacokinetics (2012) (1)
- Dietary fatty acid intake is associated with paraoxonase 1 activity in a cohort-based analysis of 1,548 subjects (2013) (1)
- 920 NOVEL SINGLE NUCLEOTIDE POLYMORPHISMS MAY PREDICT ED: DATA FROM THE GROUP HEALTH ADULT CHANGES IN THOUGHT STUDY (2011) (1)
- An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial. (2022) (1)
- Are Associated with Erythrocyte Sedimentation Rate (2011) (1)
- Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease (2023) (1)
- Risk‐reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system (2022) (1)
- Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization (2019) (1)
- Abstract 14477: Integrating Patient-Specific Cardiomyocyte Function With Population Multi-omics Identifies a Novel Arrhythmia Pathway (2017) (1)
- Angiopoietin-Like4 Is a Novel Marker of COVID-19 Severity (2022) (1)
- Abstract 417: Normalized Wall Index Predicts New Fibrous Cap Rupture and New Intraplaque Hemorrhage in the Carotid Atherosclerotic Lesion (2008) (1)
- The FamilyTalk randomized controlled trial: patient-reported outcomes in clinical genetic sequencing for colorectal cancer (2021) (1)
- Using Electronic Health Records to Identify Heart Failure Cohorts with Differentiation for Preserved and Reduced Ejection Fraction (2012) (1)
- Genome-wide association study of susceptibility to hospitalised respiratory infections [version 1; peer review: awaiting peer review] (2021) (1)
- A case for expanding carrier testing to include actionable X‐linked disorders (2018) (0)
- A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers (2018) (0)
- Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index (2022) (0)
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel (2019) (0)
- Genome-wide scan for high-risk prostate cancer families with breast cancer reveals new loci for prostate cancer and breast cancer (2001) (0)
- VarSight: prioritizing clinically reported variants with binary classification algorithms (2019) (0)
- Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease (2022) (0)
- ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants (2017) (0)
- SCANNING THE PHENOME TO UNCOVER PLEIOTROPIC EFFECTS OF PCSK9 (2017) (0)
- Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals (2017) (0)
- ShareDNA: a smartphone app to facilitate family communication of genetic results (2021) (0)
- Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (0)
- Abstract WP135: Location and Composition of Extracranial Carotid and Intracranial Atheroma in Symptomatic U.S. and Chinese Patients Detected by Vessel Wall Magnetic Resonance Imaging (2018) (0)
- Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR) (2015) (0)
- Preface (0)
- The polygenic architecture of left ventricular mass mirrors the clinical epidemiology (2020) (0)
- Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry (2017) (0)
- Quantifying the phenome‐wide disease burden of obesity using electronic health records and genomics (2022) (0)
- Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2019) (0)
- Vascular disease, vascular risk factors and risk of late-onset Alzheimer's disease: Mendelian randomization analyses in the combined ADGC dataset (2013) (0)
- Paraoxonase 1 (PON1) Status and Substrate Hydrolysisa (2011) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
- Reply to Liu et al.: Tissue specificity of SIM1 gene expression and erectile dysfunction (2019) (0)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2020) (0)
- MP19-12 A LONGITUDINAL STUDY OF HEALTHCARE UTILIZATION IN THE EVALUATION AND MANAGEMENT OF ERECTILE DYSFUNCTION (2021) (0)
- Abstract P5-04-01: Screening Patterns of Mammography and Breast Magnetic Resonance Imaging Following Cancer Genetic Testing in an Integrated Health Care System (2023) (0)
- Genomic Medicine Year in Review: 2022. (2022) (0)
- erioperative Stroke in Infants Undergoing Open eart Operations for Congenital Heart Disease (0)
- Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2018) (0)
- Acute Inflammatory Response in Elderly with Carotid Artery Disease Following Influenza Vaccination (2006) (0)
- Using PheWAS to Assess Pleiotropy of Genetic Risk Scores for Rheumatoid Arthritis and Coronary Artery Disease in the eMERGE Network (2012) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- 2021 ASHG presidential address-Imagination and daring: Past, present, and future. (2022) (0)
- A genome-wide association study of polycystic ovary syndrome identified from 1 electronic health records (2019) (0)
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts (2016) (0)
- desiderata for the integration of genomic data into Electronic Health Records (2018) (0)
- ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial. (2022) (0)
- Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. (2022) (0)
- University of Groningen Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci Tragante, (2014) (0)
- Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results (2023) (0)
- 1.P.295 Paraoxonase activity is independent of HDL-related phenotypes (1997) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- AB001. The path to genomic medicine. (2015) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- Feelings About genomiC Testing Results Questionnaire (2020) (0)
- Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling (2018) (0)
- A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources (2022) (0)
- Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. (2021) (0)
- Abstract 13242: Complement Receptor 1 Gene Variants are Associated With Erythrocyte Sedimentation Rate (2011) (0)
- Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations (2022) (0)
- Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings (2018) (0)
- Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities (2022) (0)
- Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid (2022) (0)
- Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting. (2022) (0)
- Response to Phillips et al. (2015) (0)
- RARE-48. GROWING KNOWLEDGE AND EMERGING QUESTIONS RELATED TO POT-1 GERMLINE MUTATIONS AND ASSOCIATED MALIGNANCIES: A CASE REPORT (2019) (0)
- Editorial help (2004) (0)
- P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies (2023) (0)
- A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects (2013) (0)
- Potential Association of a Single Nucleotide Polymorphism in the CDNK1B Gene and Carotid Plaque Fibrous Cap Status by MRI (2013) (0)
- YEAR IN REVIEW Genomic Medicine Year in Review: 2020 (2020) (0)
- Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions. (2023) (0)
- A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR (2019) (0)
- Participation in a national diagnostic research study: assessing the patient experience (2023) (0)
- Abstract 14663: High Rate of Arrhythmia Diagnoses Following Return of Pathogenic/likely Pathogenic Variants in an Unselected Population (2020) (0)
- P4472Targeted sequencing of 80 pharmacogenes reveals evidence for pleiotropic effects on serum LDL cholesterol levels (2017) (0)
- with or without aortic arch obstruction Neurodevelopmental outcome after early repair of a ventricular septal defect (2013) (0)
- Abstract PR02: Using web-based tools to assess familial cancer risk in diverse populations (2020) (0)
- Abstract 881: Benchmarking genome-wide polygenic risk score development techniques in colorectal cancer risk prediction (2021) (0)
- Proceedings of the Anaesthetic Research Society MeetingAberdeen Exhibition Centre, Aberdeen, 21–22 June 2012 (2012) (0)
- A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes (2021) (0)
- Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network (2011) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- Author's response to reviews Title: Discovery and Replication of SNP-SNP Interactions for Quantitative Lipid Traits in over 60,000 Individuals Authors: (2017) (0)
- Abstract 20688: A Phenome-Wide Association Study to Assess Pleiotropic Effects of LPA (2017) (0)
- Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network (2015) (0)
- Genetic Sex Validation for Sample Tracking in Clinical Testing (2021) (0)
- Harmonizing variant classification for return of results in the All of Us Research Program (2021) (0)
- Abstract 11837: A Vascular Endothelial Growth Factor a (VEGFA) Genetic Variant is Associated With Improved Ventricular Function and Transplant-Free Survival After Surgery for Non-Syndromic Congenital Heart Defects (2014) (0)
- “It would be so much easier”: health system-led genetic risk notification—feasibility and acceptability of cascade screening in an integrated system (2019) (0)
- Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023) (0)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
- Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics (2018) (0)
- Mutations in Human PON1: Role in Organophosphorus Sensitivity and Vascular Disease (2000) (0)
- Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment (2018) (0)
- Localization by genome scan of two large QTLs influencing HDL levels in FCHL pedigrees with exploration of their relationship to triglyceride levels (2002) (0)
- C-A3-03: Building a Biorepository: Lessons Learned from the Northwest Institute of Genetic Medicine (2011) (0)
- Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance (2021) (0)
- Abstract 15209: LPA Variants Are Associated With Aortic Valve Stenosis, Heart Failure and Chronic Kidney Disease (2020) (0)
- Bi-allelic variants in INTS11 are associated with a complex neurological disorder. (2023) (0)
- Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A (2023) (0)
- Barriers to knowledge of family history and family communication among LGBTQ+ individuals in the context of hereditary cancer risk assessment (2021) (0)
- Genetic Predisposition to Prostate Cancer (2002) (0)
- Family history and apoE genotype interaction in Alzheimer`s disease (AD) (1994) (0)
- Corrigendum to "Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations" [Contemporary Clinical Trials 106 (2021) 106432]. (2022) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- Development of FamilyTalk: an Intervention to Support Communication and Educate Families About Colorectal Cancer Risk (2019) (0)
- Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (0)
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